Retinal dystrophy and leukodystrophy caused by ACBD5 deficiency in five Omani patients: A case series.
Open accessAbstract
Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal recessive disorder that manifests as retinal dystrophy and leukodystrophy. We report five Omani patients with ages ranging between 4 and 30 years. First presentation was in infancy with nystagmus and photophobia and progressed to legal blindness by 10 years of age. Electroretinogram confirmed severe cone-rod dystrophy. Motor neuroregression with variable ages of onset and signs of progressive cerebellar ataxia were seen in all patients, whereas cognitive decline was observed in some. Brain MRI revealed diffuse T2 signal abnormality in deep white matter, with involvement of corticospinal tracts. Plasma long chain fatty acid profile showed mild elevation of C26 and C26/22 ratio. Two homozygous variants in ACBD5 gene were identified; exons 7 and 8 deletion and exon 4 deletion. This series confirms retinal dystrophy and leukodystrophy as key features of ACBD5 deficiency with main symptoms of early onset visual decline, progressive spasticity, and cerebellar ataxia. This case series adds valuable insight in to this ultra-rare neurometabolic disease.
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Four RDLKD patients were significantly underweight.
“while four patients were significantly underweight (Al Shamsi et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
The case descriptions and anthropometry table report markedly low weights for cases one and three, but case two’s weight was at the 8th percentile and case four’s at the 5th–10th percentile. The Discussion states that cases four and five had no growth abnormality. These findings contradict the claim that four patients were significantly underweight. (LLM, conf=0.88)
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Experimental — accuracy not yet measuredMRI signal changes were detected in motor function-related gray matter structures, including the basal ganglia (three patients) and the red nucleus (two patients), in ACBD5 deficiency.
“Notably, in addition to white matter abnormalities in the CNS, MRI signal changes were also detected in motor function-related gray matter structures, including the basal ganglia (three patients; Rudaks et al., 2024; Al Shamsi et al., 2025) and the red nucleus (two patients; Al Shamsi et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
The Figure 1 caption (under Case three; page unavailable) identifies the red nuclei in MRI images of two patients, but describes their striking appearance as a consequence of surrounding white-matter changes, not as signal changes in the red nuclei themselves. The case MRI summary (under Case two; page unavailable) reports white-matter abnormalities and does not document basal-ganglia signal changes in three patients. (LLM, conf=0.84)
Experimental — accuracy not yet measuredMicrocephaly was observed in six RDLKD individuals.
“Microcephaly was observed in six individuals (Ferdinandusse et al., 2017; Al Shamsi et al., 2025), while four patients were significantly underweight (Al Shamsi et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
The Case one and Case three sections document microcephaly or a head circumference of −3 SD in two patients, and the Discussion describes microcephaly as a feature of the series. This paper does not establish the cited total of six individuals; that total is attributed jointly to this paper and Ferdinandusse et al. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCognitive symptoms in RDLKD range from mild learning difficulties to severe deficits in speech and comprehension.
“The cognitive symptoms ranged from mild learning difficulties (Al Shamsi et al., 2025) to severe deficits in speech and comprehension (Bartlett et al., 2021).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
One ACBD5-deficient patient showed no cognitive impairment despite prolonged disease progression.
“Interestingly, while one patient showed no cognitive impairment despite prolonged disease progression (Al Shamsi et al., 2025), febrile convulsions were reported in two others already during early childhood (Gorukmez et al., 2022), highlighting the broad phenotypic variability/severity of the disorder.”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
Retinal dystrophy is one of the early clinical features in RDLKD patients and occurs even in those with only mild motor or cognitive impairments.
“In contrast, retinal dystrophy is one of the early clinical features in RDLKD patients and occurs, as also reported for less severe cases of the Zellweger spectrum (Karuntu et al., 2024), even in those with only mild motor or cognitive impairments (Al Shamsi et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Al Shamsi et al., 2025
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Research works printed but not linked: 10
- [1]1. Waterham HR, Ferdinandusse S, Wanders RJ. Human disorders of peroxisome metabolism and biogenesis. Biochim Biophys Acta 2016 May;1863(5):922-933.
- [2]2. Wiese S, Gronemeyer T, Ofman R, Kunze M, Grou CP, Almeida JA, et al. Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics 2007 Dec;6(12):2045-2057.
- [3]3. Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CW, et al. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet 2017 May;54(5):330-337.
- [4]4. Yagita Y, Shinohara K, Abe Y, Nakagawa K, Al-Owain M, Alkuraya FS, et al. Deficiency of a retinal dystrophy protein, Acyl-CoA binding domain-containing 5 (ACBD5), impairs peroxisomal β-oxidation of very-long-chain fatty acids. J Biol Chem 2017 Jan;292(2):691-705.
- [5]5. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, et al. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 2013 Feb;23(2):236-247.
- [6]6. Bartlett M, Nasiri N, Pressman R, Bademci G, Forghani I. First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. Am J Med Genet A 2021 Apr;185(4):1236-1241.
- [7]7. Gorukmez O, Havalı C, Gorukmez O, Dorum S. Newly defined peroxisomal disease with novel ACBD5 mutation. J Pediatr Endocrinol Metab 2021 Oct;35(1):11-18.
- [8]8. Das Y, Roose N, De Groef L, Fransen M, Moons L, Van Veldhoven PP, et al. Differential distribution of peroxisomal proteins points to specific roles of peroxisomes in the murine retina. Mol Cell Biochem 2019 Jun;456(12):53-62.
- [9]9. Bazan NG. Cellular and molecular events mediated by docosahexaenoic acid-derived neuroprotectin D1 signaling in photoreceptor cell survival and brain protection. Prostaglandins Leukot Essent Fatty Acids 2009;81(23):205-211.
- [10]10. Hua R, Cheng D, Coyaud É, Freeman S, Di Pietro E, W ang Y, et al. VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis. J Cell Biol 2017 Feb;216(2):367-377.
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The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7 · see citing works
- Authors
- Al Shamsi, B., Ganesh, A., Harikrishna, B., Al Zuhaibi, S., Markovic, I., Mansy, A., Al Thihli, K., Ahmad, F., Mameesh, M., & Al Murshedi, F.
- Affiliations
- Sultan Qaboos University Hospital (OM)
- Venue
- Oman Medical Journal
- Publisher
- Oman Medical Journal
- Published
- 2026-03-31
- Volume
- 41
- Issue
- 2
- Pages
- e824-e824
- ISSN
- 1999-768X (ISSN-L)
- 2070-5204
- OpenAlex
- W4388100793
- Cited by
- 2
- References
- 0
- Citations by year
- 2025: 2
- FWCI
- 0.39
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc
- Locations
- Oman Medical Journal (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- PubMed Central (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- retinal dystrophy, leukodystrophy, peroxisomal disorders, very long chain fatty acid beta-oxidation, cone-rod dystrophy, cerebellar ataxia, autosomal recessive inborn error of metabolism, Omani patients
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